Structural eye disease

Gene: TBC1D23

I don't know

Ivanova et al. 2017 Out of 3 families with Ponocerebellar dysplasia and homozygous truncating variants one family (3 affected members) has coloboma, Marin-Valencia: Zebrafish model has reduced eye size, but the 4 families described do not have structural eye anomalies

Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.

Panel Version: 1.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 28823707
• 28823706

Red List (low evidence)

PMID:28823707. 2 of 3 unrelated families (4 of 7 affected individuals) had ataxia. 1 family (3 affected individuals) had coloboma and strabismus. 1 family (1 individual) had hyperopia and strabismus.

PMID:28823706. 2 of 4 unrelated families (4 of 6 affected individuals) had ataxia. 2 of 6 individuals with eye phenotype (strabismus or esotropia of the left eye). Zebrafish morpholino knockout model showed reduced eye size.

PMID: 32360255. 1 case with ataxia. No eye phenotype reported.

Despite there being a zebrafish model with an eye phenotype, there is only 1 family out of 8 who had coloboma, therefore this gene is given a Red rating until more evidence is available.
Sources: Literature

Created: 19 Apr 2021, 2:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
coloboma, MONDO:0001476; strabismus, MONDO:0003432

Publications

• 28823707
• 28823706
• 32360255